Conditions Overview

From your newborn baby's single urine specimen, more than 100 metabolic disorders from 9 groups of inborn errors of metabolism can be identified via MetascreenTM. Below is a complete list of the metabolic disorders that will be tested and can be detected with MetascreenTM.

Excessive acid in the body (metabolic acidosis), dehydration, excess of ammonia in the blood (hyperammonemia), present of ketone bodies in the urine (ketonuria), vomiting, low levels of blood sugar (hypoglycemia), and failure to thrive.

Methylmalonic aciduria (Cbl A and Cbl B)

Excessive acid in the body (metabolic acidosis), dehydration, excess of ammonia in the blood (hyperammonemia), present of ketone bodies in the urine (ketonuria), vomiting, low levels of blood sugar (hypoglycemia), and failure to thrive.

Developmental delays, progressive difficulty with balance and coordination (ataxia), progressive problems with vision, and failure to thrive. Typical features include an unusually small, elongated head.

Failure to thrive, diarrhea, vomiting, jaundice, cabbage-like odor, and increased tendency to bleed (particularly nosebleeds). May also lead to liver and kidney failure, problems affecting the nervous system, and an increased risk of liver cancer.

Tyrosinuria type II (oculocutaneous tyrosinuria )

Excessive tearing, abnormal sensitivity to light, eye pain and redness, and painful skin lesions on the palms and soles. May also have some degree of intellectual disability.

Lacking in energy (lethargic) or unwilling to eat, and have poorly controlled breathing rate or body temperature. Some babies with this disorder experience seizures or unusual body movements, or go into a coma.

Argininuria

Stiffness, especially in the legs, caused by abnormal tensing of the muscles (spasticity), developmental delays, intellectual disability, seizures, tremor, and difficulty with balance and coordination (ataxia).

An enlarged liver and spleen (hepatosplenomegaly), short stature, muscle weakness, impaired immune function, and progressively brittle bones that are prone to fracture (osteoporosis). Lung function may be affected and can be life-threatening.

Seizures, intellectual disability, and other neurological or psychiatric problems.

Hyperprolinuria type II

Seizures, and intellectual disability.

Hyper hyperprolinuria

Intellectual disability.

2-hydroxyglutaric aciduria

Severe seizures, weak muscle tone (hypotonia), and breathing and feeding problems. Afflicted individuals usually survive only into infancy or early childhood.

Hawkinsinuria

Failure to thrive, persistent excessive acid in the body (metabolic acidosis), and fine and sparse hair.

Biotinidase deficiency

Seizures, weak muscle tone (hypotonia), breathing problems, and developmental delays. If left untreated, the disorder can lead to hearing loss, eye abnormalities and loss of vision, difficulty with balance and coordination (ataxia), skin rashes, hair loss (alopecia), and a fungal infection called candidiasis.

Fumarate hydratase deficiency

Poor feeding, failure to thrive, weak muscle tone (hypotonia), lethargy, and seizures. Most affected individuals are non-verbal and non-ambulatory, and many die during early childhood.

Weak muscle tone (hypotonia), feeding problems, hearing loss, vision loss, and seizures. Affected individuals have distinctive facial features, including a flattened face, broad nasal bridge, and high forehead, and typically do not survive beyond the first year of life.

Failure to thrive, elevated calcium levels in the body (nephrocalcinosis), decreased number of red blood cells (anemia), and persistent excessive acid in the body (metabolic acidosis).

Purine & pyrimidine metabolism disorders

Name

Signs and Symptoms

Adenosine deaminase deficiency

Pneumonia, chronic diarrhoea, widespread skin rashes and developmental delays. Without treatment, these affected babies usually do not survive past age 2.

Lesch-Nyhan syndrome

Abnormal involuntary muscle movements, such as tensing of various muscles (dystonia), jerking movements (chorea), and flailing of the limbs (ballismus), and self-injury (including biting and head banging).

Kelley-Seegmiller syndrome

Presence of orange crystals in diapers. Urinary infections, and renal obstruction. Gout may appear after puberty.

Recurrent seizures (epilepsy), intellectual disability, small head size (microcephaly), increased muscle tone (hypertonia), delayed development of motor skills such as walking, and autistic behaviors that affect communication and social interaction. Vulnerable to severe, potentially life-threatening toxic reactions to certain drugs called fluoropyrimidines that are used to treat cancer.

About Us

MetascreenTM is a trademark or registered trademark of Cordlife Group Limited, a Singapore Exchange Mainboard listed company. The screening test offered under the brand is conducted by Hong Kong Screening Centre, a CAP-accredited laboratory committed to providing early and accurate detection of metabolic disorders in newborn babies. Hong Kong Screening Centre has a quality management system in place to ensure maximum accuracy of screening results. As with any laboratory tests, false positive or false negative results cannot be completely eliminated due to various reasons including but not limited to age of patient at the time of specimen collection, patient’s health status, specimen quality and other variables. Hence, the risk of a disorder should never be precluded solely on the basis of screening. Signs or symptoms observed should be followed up immediately by a professional healthcare provider.